DYT11
MCID: DYS098
MIFTS: 26

Dystonia-11, Myoclonic (DYT11) malady

Neuronal diseases category

Summaries for Dystonia-11, Myoclonic

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46OMIM, 32MalaCards
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MalaCards: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to myoclonus-dystonia and familial dystonia. An important gene associated with Dystonia-11, Myoclonic is SGCE (sarcoglycan, epsilon).

Description from OMIM:46 159900

Aliases & Classifications for Dystonia-11, Myoclonic

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Sources:
46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
myoclonic dystonia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

dystonia-11, myoclonic 46
myoclonic dystonia 48 60
hereditary essential myoclonus 48
myoclonus-dystonia syndrome 48
alcohol-responsive dystonia 48
dyt11 48


External Ids:

OMIM46 159900
MESH via Orphanet35 C536096
ICD10 via Orphanet26 G24.1, G25.3
SNOMED-CT via Orphanet57 439732004
UMLS via Orphanet61 C1834570

Related Diseases for Dystonia-11, Myoclonic

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17GeneCards, 18GeneDecks
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Diseases in the Dystonia-11, Myoclonic family:

Dystonia 15, Myoclonic

Diseases related to Dystonia-11, Myoclonic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myoclonus-dystonia31.2TOR1A, SGCE
2familial dystonia30.7TOR1A, SGCE
3dystonia 15, myoclonic10.2
4alcohol dependence10.0DRD2
5gilles de la tourette syndrome10.0DRD2
6movement disease10.0SGCE, TOR1A
7obsessive-compulsive disorder10.0SGCE, DRD2
8focal dystonia10.0TOR1A, DRD2
9parkinson's disease10.0TOR1A, DRD2

Graphical network of diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Clinical Features for Dystonia-11, Myoclonic

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46OMIM
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Clinical features from OMIM:

159900

Clinical synopsis from OMIM:

159900

Drugs & Therapeutics for Dystonia-11, Myoclonic

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dystonia-11, Myoclonic

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Anatomical Context for Dystonia-11, Myoclonic

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Animal Models for Dystonia-11, Myoclonic or affiliated genes

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Publications for Dystonia-11, Myoclonic

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Genetic Variations for Dystonia-11, Myoclonic

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Dystonia-11, Myoclonic:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743

Expression for genes affiliated with Dystonia-11, Myoclonic

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dystonia-11, Myoclonic

Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

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Compounds for genes affiliated with Dystonia-11, Myoclonic

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GO Terms for genes affiliated with Dystonia-11, Myoclonic

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Products for genes affiliated with Dystonia-11, Myoclonic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dystonia-11, Myoclonic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet